Apert Syndrome

Common Name(s)

Apert Syndrome, Acrocephalosyndactyly, Type 1

Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. Cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. Management typically includes various surgical procedures that are tailored to the affected individual's needs.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Apert Syndrome" for support, advocacy or research.

Logo
Apert Syndrome Pen Pals

To provide guidance and support for individuals with Apert Syndrome.

Last Updated: 10 Dec 2012

View Details
Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

Last Updated: 19 Nov 2014

View Details
Logo
World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

Last Updated: 7 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Apert Syndrome" for support, advocacy or research.

Logo
Apert Syndrome Pen Pals

To provide guidance and support for individuals with Apert Syndrome.

Last Updated: 10 Dec 2012

View Details
Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

http://www.cappskids.org/

Last Updated: 19 Nov 2014

View Details
Logo
World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

http://www.worldcf.org

Last Updated: 7 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Apert Syndrome" returned 51 free, full-text research articles on human participants. First 3 results:

Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.
 

Author(s): Lilian Torres, Gualberto Hernández, Alejandro Barrera, Sandra Ospina, Rolando Prada

Journal:

 

Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs.

Last Updated: 25 Nov 2015

Go To URL
Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome.
 

Author(s): Masanori Tsukamoto, Takeshi Yokoyama

Journal: Anesth Prog. 2015 ;62(3):122-4.

 

Apert syndrome is a rare autosomal dominant disorder characterized by craniofacial abnormalities, craniosynostosis and syndactyly. Nasotracheal intubation for a patient with Apert syndrome can be a challenge because of abnormal facial anatomy. We experienced the anesthetic management ...

Last Updated: 24 Sep 2015

Go To URL
[Apert syndrome in a 60-year old Congolese: about one observation].
 

Author(s): Léon Kabamba Ngombe, Christophe Mwamba Kabamba, David Kakez Nday, Jimmy Ngoie Fundi, Tony Kayembe Kitenge, Luboya Numbi

Journal:

 

Last Updated: 28 Aug 2015

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Apert Syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

[Apert syndrome].
 

Author(s): Sarra Benmiloud, Sana Chaouki, Samir Atmani, Moustapha Hida

Journal: Pan Afr Med J. 2013 ;14():66.

 

Last Updated: 8 Apr 2013

Go To URL
[Autopsy of a fetus with Apert syndrome and review of the literature].
 

Author(s): Jie Zhou, Yong-jian Deng, Xue-qin Sima

Journal: Nan Fang Yi Ke Da Xue Xue Bao. 2011 Mar;31(3):557-8.

 

Last Updated: 21 Feb 2013

Go To URL
Oral manifestations in Apert syndrome: case presentation and a brief review of the literature.
 

Author(s): Andrada Soancă, Diana Dudea, H Gocan, Alexandra Roman, B Culic

Journal: Rom J Morphol Embryol. 2010 ;51(3):581-4.

 

The present paper describes the oral manifestations in a 16-year-old boy previously diagnosed with Apert syndrome.

Last Updated: 2 Sep 2010

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.